Bi-allelic VPS16 variants limit HOPS/CORVET levels and cause a mucopolysaccharidosis-like disease
双等位基因 VPS16 变异限制 HOPS/CORVET 水平并导致粘多糖贮积症样疾病
期刊:EMBO Molecular Medicine
影响因子:9
doi:10.15252/emmm.202013376
Kalliopi Sofou #, Kolja Meier #, Leslie E Sanderson #, Debora Kaminski #, Laia Montoliu-Gaya, Emma Samuelsson, Maria Blomqvist, Lotta Agholme, Jutta Gärtner, Chris Mühlhausen, Niklas Darin, Tahsin Stefan Barakat, Lars Schlotawa, Tjakko van Ham, Jorge Asin Cayuela, Fredrik H Sterky
